Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q666P

MAGEL2

229 papers

RefSeq Summary

Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-o...

Pfam Domains

MAGEaa 1027–1195UCSCMAGE homology domain

Gene Aliases

HGNC Name

MAGE family member L2

HGNC Previous Symbol

NDNL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019066.5
p.Q666P
c.1997A>C
Surrounding Variants
47 papers
NM_019066.5
p.Q666insFs
c.1996dupC
22 papers
NM_019066.5
p.Q666delFs
c.1996delG
1 paper
NM_019066.5
p.P665del1
c.1993_1994delGGG
9 papers
NM_019066.5
p.Q666fs
c.1996_1997fs
1 paper
NM_019066.5
p.Q666insFs
c.1997dupA
3 papers
NM_019066.5
p.Q666insFs
c.1996_1997dupCA
1 paper
NM_019066.5
p.Q666delFs
c.1997delT
26 papers
NM_019066.5
p.Q666fs
c.1996_1997fs
4 papers
NM_019066.5
p.Q666*
c.1996C>T
2 papers
NM_019066.5
p.P664Fs
c.1990_1991delinsAFs
2 papers
NM_019066.5
p.P664fs
c.1990_1991fs
2 papers
NM_019066.5
p.Q669*
c.2005C>T
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